A 20-Year-Old Man Who Stopped Speaking

James Robert Brasic, MD, MPH

Disclosures

July 31, 2017

Physical Examination and Workup

At age 16 years and 7 months, quantitative electroencephalography (QEEG) demonstrated diminished power in all wave bands (Figure 1).

Figure 1.

At age 17 years, the patient was hospitalized. He was a well-developed, well-nourished youth in no acute respiratory distress. He exhibited constant grimacing, with continuous eye blinking. He did not respond to questions. His movements were slow. When given a slight push, he moved in the indicated direction. Mild weakness of the right arm and leg were noted. His right foot was dragged on the floor when walking. He could not squeeze his fists. He had a stooped posture when walking.

A physical examination at that time was otherwise unremarkable. Findings of a lumbar puncture and MRI of the spinal cord and brain were normal. His serum serology was nonreactive. His antinuclear antibody and HIV antibody titers were negative. His serum ceruloplasmin level was 40 mg/dL. The enzymatic defect of metachromatic leukodystrophy was absent in punch biopsies of the left axilla. Normal mitochondrial enzymes of oxidative phosphorylation were observed. The patient's grimacing ceased for a short time after intravenous injections of lorazepam and three injections of amobarbital.

At age 18 years, the patient began requiring assistance for feeding. At age 18 years and 5 months, he required assistance with toilet activities and dressing. Three months later, a left sural nerve biopsy demonstrated loss of axon cylinders (Figure 2), and a left deltoid biopsy revealed perimysial fibrosis and type II fiber predominance (Figure 3).

Figure 2.

Figure 3.

At age 19 years and 2 months, he demonstrated progressively increasing adventitious movements and a decreasing ability to perform activities of daily living. At age 19 years and 8 months, he received a course of 25 electroconvulsive treatments without improvement. Two months later, QEEG revealed increased theta and delta in all brain regions (Figure 4).

Figure 4.

At age 20 years and 11 months, 2-deoxy-2-[18F]fluoro-D-glucose positron emission tomography ([18F]FDG PET) demonstrated decreased uptake in the right parietal and right temporal regions (Figure 5).

Figure 5.

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